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Human Genetics

Human Genetics   Research Article

Genetic associations of the INSIG2 rs7566605 polymorphism with obesity-related metabolic traits in Malaysian Malays

Authors: Y.D. Apalasamy , F.M. Moy, S. Rampal, A. Bulgiba and Z. Mohamed

A genome-wide association study showed that the tagging single nucleotide polymorphism (SNP) rs7566605 in the insulin-induced gene 2 (INSIG2) was associated with obesity. Attempts to replicate this result in different populations have produced inconsistent findings. We aimed to study the association between the rs7566.. Read More»

Genet. Mol. Res. 13(3):
2014.July.4.4
DOI:
10.4238/2014.July.4.4
Human Genetics   Research Article

Bone morphogenetic protein 9 facilitates osteocarcinoma cell apoptosis and inhibits in vivo tumor growth

Authors: J. Zhang, J.H. Liang and J.G. Huang

Osteosarcoma (OS) causes millions of death worldwide and, since there is no effective therapy, it is necessary to identify the molecular mechanism of OS, which can direct the development of new therapies. This study investigated the role of bone morphogenetic protein 9 (BMP9), a member of the transforming growth factor (TGF)-β family, in OS developme.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038036
DOI:
10.4238/gmr.15038036
Human Genetics   Research Article

Association between functional polymorphisms in the nitric oxide synthase 3 gene and pediatric acute respiratory distress syndrome

Authors: L. Wei, Y. An and J. Wang

Nitric oxide mediates multiple physiological functions, including neurotransmission, immune regulation, angiogenesis, antiplatelet activity, and surfactant maturation or secretion. Mice deficient in the nitric oxide synthase 3 (NOS3) gene displayed defective lung vascular development and fatal respiratory distress. Polymorphisms in NOS3 have been reported.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038401
DOI:
10.4238/gmr.15038401
Human Genetics   Research Article

Clinical study of the correlation between complement factor H polymorphism and age-related macular degeneration

Authors: H.T. Dong, J.X. Zhang, Q.M. Li and F.Z. Li

This study aimed to investigate the correlation between age-related macular degeneration (AMD) of the liver-kidney yin-deficiency type and complement factor H (CFH) polymorphism, and to determine whether the C allele of the T1277C (Y402H) variant is a risk factor for this condition. We performed a case-control investigation of 60 patients with liver-kidne.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038457
DOI:
10.4238/gmr.15038457
Human Genetics   Research Article

Effect of pregnane X receptor polymorphisms on tacrolimus blood concentrations and the resulting adverse reactions in kidney transplantation recipients

Authors: Z.P. Wang, M. Zhao, Q.S. Qu and S.Z. Miao

We investigated the effect of pregnane X receptor (PXR) polymorphisms on tacrolimus (FK506) blood trough concentrations and the associated adverse reactions in kidney transplantation recipients (KTRs). Polymerase chain reaction (PCR)-restriction fragment length polymorphism was used to detect the genotypes of single nucleotide polymorphism loci in 336 KTR.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038464
DOI:
10.4238/gmr.15038464
Human Genetics   Research Article

Mitochondrial gene expression in the liver and muscle of high and low feed efficiency Japanese quail layers subjected to different environmental temperatures

Authors: D.M. Voltolini, A.P. Del Vesco, E. Gasparino, S.E.F. Guimar�£es, A.R. Oliveira Neto, E. Batista and A.P.S. Ton

We evaluated the adenine nucleotide translocator (ANT) and cytochrome oxidase subunit III (COX III) mRNA expressions in the muscle and liver of Japanese quails presenting high and low feed efficiency (FE), and subjected them to three different environmental temperatures: comfort, heat stress (38°C), and cold stress (10°.. Read More»

Genet. Mol. Res. 13(3):
2014.July.4.8
DOI:
10.4238/2014.July.4.8
Human Genetics   Research Article

Associations of serotonin receptor gene HTR3A, HTR3B, and HTR3A haplotypes with bipolar disorder in Chinese patients

Authors: J. Jian, C. Li, J. Xu, D. Qiao, G. Mi, X. Chen and M. Tang

Single nucleotide polymorphisms (SNPs) in HTR3A and HTR3B have been reported to be associated with bipolar disorder in European and Japanese populations. We explored the roles of 21 tag SNPs in HTR3A and HTR3B in susceptibility to bipolar disorder in a Chinese cohort. Twenty-one Tag SNPs were genotyped in a study consisting of 130 patients with bipolar di.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038671
DOI:
10.4238/gmr.15038671
Human Genetics   Research Article

Detection of fetal RHD pseudogene (RHD�¨) and hybrid RHD-CE-Ds from RHD-negative pregnant women with a free DNA fetal kit

Authors: T. Gunel, I. Kalelioglu, A. Gedikbasi, H. Ermis and K. Aydinli

Hemolytic disease of the newborn is a clinical condition in which maternal and paternal Rh blood group antigens are incompatible and the mother is negative for the antigen whereas the father is positive. Analysis of fetal cells recovered from maternal plasma can provide a highly sensitive prenatal diagnosis. The fetal RHD gene.. Read More»

Genet. Mol. Res. 10(4):
2011.October.26.1
DOI:
10.4238/2011.October.26.1
Human Genetics   Research Article

Effect of codon optimization on expression levels of human cystatin C in Pichia pastoris

Authors: Y.M. Li, D.J. Li, X.J. Xu, M. Cui, H.H. Zhen and Q. Wang

Human cystatin C (CysC) is a cysteine proteinase inhibitor with many potential applications. To facilitate further studies of the functions and applications of CysC, we improved the heterologous expression of CysC using a basic codon optimization method. In this study, we cloned the high-GC content wild-type sequence of the .. Read More»

Genet. Mol. Res. 13(3):
2014.July.4.14
DOI:
10.4238/2014.July.4.14
Human Genetics   Research Article

Predictive role of vascular endothelial growth factor polymorphisms in the survival of renal cell carcinoma patients

Authors: Y.-Q. Yang and J. Chen

We conducted a study to investigate the possible role of the vascular endothelial growth factor (VEGF) polymorphisms -2578C/A, -1154G/A and -634C/G and clinical factors in renal cell carcinoma (RCC) prognosis in a cohort of 336 RCC cases. A total of 336 patients with RCC were recruited from PLA General Hospital between January.. Read More»

Genet. Mol. Res. 13(3):
2014.July.4.16
DOI:
10.4238/2014.July.4.16